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https://www.readbyqxmd.com/read/27916343/cardiac-autophagic-vacuolation-in-severe-x-linked-myopathy-with-excessive-autophagy
#1
Iulia Munteanu, Hannu Kalimo, Antti Saraste, Ichizo Nishino, Berge A Minassian
X-linked myopathy with excessive autophagy (XMEA), caused by mutations of the VMA21 gene, is a strictly skeletal muscle disease. Extensive studies in yeast established VMA21 as the master assembly chaperone of V-ATPase, the complex multisubunit proton pump that acidifies organelles and that is vital to all mammalian tissues. As such, skeletal muscle disease exclusivity in XMEA is highly surprising. We now show that the severest VMA21 mutation, c.164-6t>g, does result in XMEA-typical pathology with autophagic vacuolar changes outside skeletal muscle, namely in the heart...
October 19, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/25845477/no-cardiomyopathy-in-x-linked-myopathy-with-excessive-autophagy
#2
Antti Saraste, Juha W Koskenvuo, Juhani Airaksinen, Nivetha Ramachandran, Iulia Munteanu, Bjarne Udd, Sanna Huovinen, Hannu Kalimo, Berge A Minassian
In X-linked myopathy with excessive autophagy (XMEA) progressive sarcoplasmic accumulation of autolysosomes filled with undegraded debris leads to atrophy and weakness of skeletal muscles. XMEA is caused by compromised acidification of lysosomes resulting from hypofunction of the proton pump vacuolar ATPase (V-ATPase), due to hypomorphic mutations in VMA21, whose protein product assembles V-ATPase. To what extent the cardiac muscle is affected is unknown. Therefore we performed a comprehensive cardiac evaluation in four male XMEA patients, and also examined pathology of one deceased patient's cardiac and skeletal muscle...
June 2015: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/25809233/muscle-magnetic-resonance-imaging-abnormalities-in-x-linked-myopathy-with-excessive-autophagy
#3
Sandra Mercier, Armelle Magot, Florence Caillon, Bertrand Isidor, Albert David, Xavier Ferrer, Anne Vital, Michelle Coquet, Sini Penttilä, Bjarne Udd, Jean-Marie Mussini, Yann Pereon
INTRODUCTION: X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopathy due to recently reported mutations in the VMA21 gene. METHODS: Four men from 2 separate families were studied. The clinical presentation, genetic data, muscle biopsy, and muscle MRI were analyzed. RESULTS: A known VMA21 mutation, c.163+4A>G, and a new mutation, c.163+3A>G, respectively, were found in the 2 families. The clinical course was characterized by onset in childhood and progressive muscle weakness with a limb-girdle pattern...
October 2015: Muscle & Nerve
https://www.readbyqxmd.com/read/25683699/non-coding-vma21-deletions-cause-x-linked-myopathy-with-excessive-autophagy
#4
A Ruggieri, N Ramachandran, P Wang, E Haan, C Kneebone, J Manavis, L Morandi, I Moroni, P Blumbergs, M Mora, B A Minassian
X-linked Myopathy with Excessive Autophagy (XMEA) affects proximal muscles of the lower extremities and follows a progressive course reminiscent of muscular dystrophy. It is caused by mutations in VMA21 whose protein product assembles lysosomes' proton pumps. All XMEA mutations to date have been single-nucleotide substitutions that reduce VMA21 expression, which leads to modest lysosomal pH increase, the first step in the disease's pathogenesis. We now report a new class of XMEA mutations. We identified two VMA21 non-coding microdeletions, one intronic (c...
March 2015: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/25644398/x-linked-myopathy-with-excessive-autophagy-a-failure-of-self-eating
#5
REVIEW
James J Dowling, Steven A Moore, Hannu Kalimo, Berge A Minassian
Autophagic vacuolar myopathies (AVMs) are a group of disorders united by shared histopathological features on muscle biopsy that include the aberrant accumulation of autophagic vacuoles. The classic conditions that compose the AVMs include Pompe Disease, Danon Disease and X-linked myopathy with excessive autophagy (XMEA). Other disorders, including acquired myopathies like chloroquine toxicity, also have features of an autophagic myopathy. This review is focused on XMEA, a myopathy with onset of slowly progressive proximal weakness and elevated serum creatine kinase (2× to 20× normal) typically in the first decade of life...
March 2015: Acta Neuropathologica
https://www.readbyqxmd.com/read/25557463/autophagic-vacuolar-pathology-in-desminopathies
#6
Conrad C Weihl, Stanley Iyadurai, Robert H Baloh, Sara K Pittman, Robert E Schmidt, Glenn Lopate, Alan Pestronk, Matthew B Harms
Autophagic vacuolar myopathies are an emerging group of muscle diseases with common pathologic features. These include autophagic vacuoles containing both lysosomal and autophagosomal proteins sometimes lined with sarcolemmal proteins such as dystrophin. These features have been most clearly described in patients with Danon's disease due to LAMP2 deficiency and X-linked myopathy with excessive autophagy (XMEA) due to mutations in VMA21. Disruptions of these proteins lead to lysosomal dysfunction and subsequent autophagic vacuolar pathology...
March 2015: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/25287446/tubulin-and-actin-associating-gimap4-is-required-for-ifn-%C3%AE-secretion-during-th-cell-differentiation
#7
Mirkka T Heinonen, Kartiek Kanduri, Harri J Lähdesmäki, Riitta Lahesmaa, Tiina A Henttinen
Although GTPase of the immunity-associated protein (GIMAP) family are known to be most highly expressed in the cells of the immune system, their function and role remain still poorly characterized. Small GTPases in general are known to be involved in many cellular processes in a cell type-specific manner and to contribute to specific differentiation processes. Among GIMAP family, GIMAP4 is the only member reported to have true GTPase activity, and its transcription is found to be differentially regulated during early human CD4(+) T helper (Th) lymphocyte differentiation...
February 2015: Immunology and Cell Biology
https://www.readbyqxmd.com/read/24488655/late-adult-onset-of-x-linked-myopathy-with-excessive-autophagy
#8
Cameron D Crockett, Alessandra Ruggieri, Meena Gujrati, Christopher M Zallek, Nivetha Ramachandran, Berge A Minassian, Steven A Moore
INTRODUCTION: X-linked myopathy with excessive autophagy (XMEA) is characterized by autophagic vacuoles with sarcolemmal features. Mutations in VMA21 result in insufficient lysosome acidification, causing progressive proximal weakness with onset before age 20 years and loss of ambulation by middle age. METHODS: We describe a patient with onset of slowly progressive proximal weakness of the lower limbs after age 50, who maintains ambulation with the assistance of a cane at age 71...
July 2014: Muscle & Nerve
https://www.readbyqxmd.com/read/23850239/elevated-urinary-%C3%AE-2-microglobulin-in-the-first-identified-japanese-family-afflicted-by-x-linked-myopathy-with-excessive-autophagy
#9
Takashi Kurashige, Tetsuya Takahashi, Yu Yamazaki, Yoshito Nagano, Keita Kondo, Takeshi Nakamura, Takemori Yamawaki, Rie Tsuburaya, Yukiko K Hayashi, Ikuya Nonaka, Ichizo Nishino, Masayasu Matsumoto
Here we report what is to our knowledge the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. The index case is a 52-year-old man with almost 40years of progressive proximal muscle weakness. High urinary β2 microglobulin, normal serum β2 microglobulin, autophagic vacuoles with sarcolemmal features, and a hemizygous c.164-7T>G mutation in the VMA21 gene were found. His two maternal uncles had similar clinicopathological findings. High urinary β2 microglobulin without obvious renal dysfunction might result from decreased urine acidification in the distal convoluted tubules caused by the VMA21 gene mutation...
November 2013: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/23315026/vma21-deficiency-prevents-vacuolar-atpase-assembly-and-causes-autophagic-vacuolar-myopathy
#10
Nivetha Ramachandran, Iulia Munteanu, Peixiang Wang, Alessandra Ruggieri, Jennifer J Rilstone, Nyrie Israelian, Taline Naranian, Paul Paroutis, Ray Guo, Zhi-Ping Ren, Ichizo Nishino, Brigitte Chabrol, Jean-Francois Pellissier, Carlo Minetti, Bjarne Udd, Michel Fardeau, Chetankumar S Tailor, Don J Mahuran, John T Kissel, Hannu Kalimo, Nicolas Levy, Morris F Manolson, Cameron A Ackerley, Berge A Minassian
X-linked Myopathy with Excessive Autophagy (XMEA) is a childhood onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show that XMEA is caused by hypomorphic alleles of the VMA21 gene, that VMA21 is the diverged human ortholog of the yeast Vma21p protein, and that like Vma21p, VMA21 is an essential assembly chaperone of the vacuolar ATPase (V-ATPase), the principal mammalian proton pump complex. Decreased VMA21 raises lysosomal pH which reduces lysosomal degradative ability and blocks autophagy...
March 2013: Acta Neuropathologica
https://www.readbyqxmd.com/read/21196517/a-genome-wide-enhancer-screen-implicates-sphingolipid-composition-in-vacuolar-atpase-function-in-saccharomyces-cerevisiae
#11
Gregory C Finnigan, Margret Ryan, Tom H Stevens
The function of the vacuolar H(+)-ATPase (V-ATPase) enzyme complex is to acidify organelles; this process is critical for a variety of cellular processes and has implications in human disease. There are five accessory proteins that assist in assembly of the membrane portion of the complex, the V(0) domain. To identify additional elements that affect V-ATPase assembly, trafficking, or enzyme activity, we performed a genome-wide enhancer screen in the budding yeast Saccharomyces cerevisiae with two mutant assembly factor alleles, VMA21 with a dysfunctional ER retrieval motif (vma21QQ) and vma21QQ in combination with voa1Δ, a nonessential assembly factor...
March 2011: Genetics
https://www.readbyqxmd.com/read/20873370/retraction-notice-to-vma21-deficiency-causes-an-autophagic-myopathy-by-compromising-v-atpase-activity-and-lysosomal-acidification
#12
(no author information available yet)
No abstract text is available yet for this article.
September 17, 2010: Cell
https://www.readbyqxmd.com/read/20616343/impaired-autophagy-in-sporadic-inclusion-body-myositis-and-in-endoplasmic-reticulum-stress-provoked-cultured-human-muscle-fibers
#13
Anna Nogalska, Carla D'Agostino, Chiara Terracciano, W King Engel, Valerie Askanas
The hallmark pathologies of sporadic inclusion-body myositis (s-IBM) muscle fibers are autophagic vacuoles and accumulation of ubiquitin-positive multiprotein aggregates that contain amyloid-beta or phosphorylated tau in a beta-pleated sheet amyloid configuration. Endoplasmic reticulum stress (ERS) and 26S proteasome inhibition, also associated with s-IBM, putatively aggrandize the accumulation of misfolded proteins. However, autophagosomal-lysosomal pathway formation and function, indicated by autophagosome maturation, have not been previously analyzed in this system...
September 2010: American Journal of Pathology
https://www.readbyqxmd.com/read/20120346/-eludication-of-pathomechanism-of-and-development-of-therapy-for-autophagic-vacuolar-myopathies
#14
Ichizo Nishino
Autophagic vacuolar myopathy (AVM) is an entity defined by the presence of autophagic vacuoles on muscle pathology. There are two emerging categories in AVM in addition to the best characterized Pompe disease. One is Danon disease and its related disorders, which are characterized by autophagic vacuoles with unique sarcolemmal features (AVSF). AVSF express virtually all sarcolemmal proteins, in addition to acetylcholinesterase, on their vacuolar membranes. Danon disease is caused by primary deficiency of a lysosomal membrane protein, LAMP-2...
January 2010: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/19379691/vma21-deficiency-causes-an-autophagic-myopathy-by-compromising-v-atpase-activity-and-lysosomal-acidification
#15
Nivetha Ramachandran, Iulia Munteanu, Peixiang Wang, Pauline Aubourg, Jennifer J Rilstone, Nyrie Israelian, Taline Naranian, Paul Paroutis, Ray Guo, Zhi-Ping Ren, Ichizo Nishino, Brigitte Chabrol, Jean-Francois Pellissier, Carlo Minetti, Bjarne Udd, Michel Fardeau, Chetankumar S Tailor, Don J Mahuran, John T Kissel, Hannu Kalimo, Nicolas Levy, Morris F Manolson, Cameron A Ackerley, Berge A Minassian
X-linked myopathy with excessive autophagy (XMEA) is a childhood-onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show that XMEA is caused by hypomorphic alleles of the VMA21 gene, that VMA21 is the diverged human ortholog of the yeast Vma21p protein, and that like Vma21p it is an essential assembly chaperone of the V-ATPase, the principal mammalian proton pump complex. Decreased VMA21 raises lysosomal pH, which reduces lysosomal degradative ability and blocks autophagy...
April 17, 2009: Cell
https://www.readbyqxmd.com/read/19379689/vma21-deficiency-a-case-of-myocyte-indigestion
#16
COMMENT
Michio Hirano, Salvatore DiMauro
The Vma21p protein in yeast is an essential assembly chaperone for the vacuolar ATPase, the major proton pump of cellular membranes. In this issue, Ramachandran et al. (2009) report that mutations in the gene encoding the human homolog VMA21 cause the disease X-linked myopathy with excessive autophagy through an unexpected mechanism.
April 17, 2009: Cell
https://www.readbyqxmd.com/read/17077122/genetic-and-molecular-interactions-of-the-erv41p-erv46p-complex-involved-in-transport-between-the-endoplasmic-reticulum-and-golgi-complex
#17
Leah M Welsh, Amy Hin Yan Tong, Charles Boone, Ole N Jensen, Stefan Otte
Erv41p and Erv46p are integral membrane proteins conserved across species. They were originally identified as abundant constituents of COPII-coated vesicles, and form a complex which cycles between the endoplasmic reticulum and Golgi complex. Yeast strains lacking these proteins are viable but display subtle secretory phenotypes. In order to obtain information about possible biological roles of this protein complex in endoplasmic reticulum to Golgi transport, we employed the Synthetic Genetic Array approach to screen for synthetic genetic interactions with the erv46 null mutation...
November 15, 2006: Journal of Cell Science
https://www.readbyqxmd.com/read/9660861/assembly-of-the-yeast-vacuolar-h-atpase-occurs-in-the-endoplasmic-reticulum-and-requires-a-vma12p-vma22p-assembly-complex
#18
L A Graham, K J Hill, T H Stevens
Three previously identified genes from Saccharomyces cerevisiae, VMA12, VMA21, and VMA22, encode proteins localized to the endoplasmic reticulum (ER). These three proteins are required for the biogenesis of a functional vacuolar ATPase (V-ATPase), but are not part of the final enzyme complex. Subcellular fractionation and chemical cross-linking studies have revealed that Vma12p and Vma22p form a stable membrane associated complex. Cross-linking analysis also revealed a direct physical interaction between the Vma12p/Vma22p assembly complex and Vph1p, the 100-kD integral membrane subunit of the V-ATPase...
July 13, 1998: Journal of Cell Biology
https://www.readbyqxmd.com/read/8416931/isolation-of-vacuolar-membrane-h-atpase-deficient-yeast-mutants-the-vma5-and-vma4-genes-are-essential-for-assembly-and-activity-of-the-vacuolar-h-atpase
#19
M N Ho, K J Hill, M A Lindorfer, T H Stevens
The vacuolar membrane H(+)-ATPase of the yeast Saccharomyces cerevisiae is a multisubunit enzyme complex composed of an integral membrane V0 sector, and a peripherally associated V1 sector. Deletion of one of several structural genes for vacuolar H(+)-ATPase subunits was previously demonstrated to prevent proper assembly of the remaining V1 subunits onto the vacuolar membrane (Kane, P.M., Kuehn, M.C., Howald-Stevenson, I., and Stevens, T.H. (1992) J. Biol. Chem. 267, 447-454). A genetic screen was designed to identify new genes whose products were essential for the synthesis, assembly, and/or function of the yeast vacuolar H(+)-ATPase...
January 5, 1993: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/7841520/vma21p-is-a-yeast-membrane-protein-retained-in-the-endoplasmic-reticulum-by-a-di-lysine-motif-and-is-required-for-the-assembly-of-the-vacuolar-h-atpase-complex
#20
COMPARATIVE STUDY
K J Hill, T H Stevens
The yeast vacuolar proton-translocating ATPase (V-ATPase) is a multisubunit complex comprised of peripheral membrane subunits involved in ATP hydrolysis and integral membrane subunits involved in proton pumping. The yeast vma21 mutant was isolated from a screen to identify mutants defective in V-ATPase function. vma21 mutants fail to assemble the V-ATPase complex onto the vacuolar membrane: peripheral subunits accumulate in the cytosol and the 100-kDa integral membrane subunit is rapidly degraded. The product of the VMA21 gene (Vma21p) is an 8...
September 1994: Molecular Biology of the Cell
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